Article
GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome.
Human molecular genetics - 1 Dec 2017
Palencia-Campos Adrian, Ullah Asmat, Nevado Julian, Yildirim Ruken, Unal Edip, Ciorraga Maria, Barruz Pilar, Chico Lucia, Piceci-Sparascio Francesca, Guida Valentina, De Luca Alessandro, Kayserili Hülya, Ullah Irfan, Burmeister Margit, Lapunzina Pablo, Ahmad Wasim, Morales Aixa V, Ruiz-Perez Victor L
Abstract excerpt
GLI1, GLI2 and GLI3 form a family of transcription factors which regulate development by mediating the action of Hedgehog (Hh) morphogens. Accordingly, inactivating variants in GLI2 and GLI3 are found in several developmental disorders. In contrast, loss-of-function mutations in GLI1 have remained elusive, maintaining enigmatic the role of this gene in the human embryo. We describe eight patients from three...
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